spondylo-megaepiphyseal-metaphyseal dysplasia
MONDO:0013228Mondo
Findings
No curated finding names spondylo-megaepiphyseal-metaphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Butterfly vertebraeHPOHP:0003316
- 3 of 3 reported patients
- Coxa varaHPOHP:0002812
- 3 of 3 reported patients
- Delayed pubic bone ossificationHPOHP:0008788
- 3 of 3 reported patients
- Delayed vertebral ossificationHPOHP:0031096
- 3 of 3 reported patients
- Disproportionate short-trunk short statureHPOHP:0003521
- 3 of 3 reported patients
- Hypoplastic iliac wingHPOHP:0002866
- 3 of 3 reported patients
- Metaphyseal irregularityHPOHP:0003025
- 3 of 3 reported patients
- Pseudoepiphyses of hand bonesHPOHP:0004288
- 3 of 3 reported patients
- Short neckHPOHP:0000470
- 3 of 3 reported patients
- Back painHPOHP:0003418
- 1 of 3 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 3 reported patients
- Hip dislocationHPOHP:0002827
- 1 of 3 reported patients
Show the remaining 12
- HydrocephalusHPOHP:0000238
- 1 of 3 reported patients
- KyphoscoliosisHPOHP:0002751
- 1 of 3 reported patients
- Long halluxHPOHP:0001847
- 1 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 3 reported patients
- Motor delayHPOHP:0001270
- 1 of 3 reported patients
- Pectus carinatumHPOHP:0000768
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NKX3-2HGNC:951
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of